Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Expression of the molecular phenotype in cultured muscle cells

Jean Villard, Andréas Fischer, Ginette Mandon, Jean Marc Collombet, Franco Taroni, Bénédicte Mousson

Research output: Contribution to journalArticle

Abstract

Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most frequent cause of hereditary myoglobinuria. We report the case of a young man who presented a severe fever-induced episode of rhabdomyolysis and myoglobinuria resulting in acute renal failure. Cultured skeletal muscle cells have been used for the biochemical and molecular characterization of the defect in this patient. Immunoblot analysis revealed reduced steady-state level of CPT II protein. A PCR-based method detected the common Ser 113Leu substitution only in one allele, suggesting that the patient is a compound heterozygote for this common mutation and a different as yet unidentified mutation.

Original languageEnglish
Pages (from-to)178-181
Number of pages4
JournalJournal of the Neurological Sciences
Volume136
Issue number1-2
Publication statusPublished - 1996

Keywords

  • CPT II deficiency
  • Cultured muscle cells
  • Molecular and biochemical phenotype
  • Mutation
  • Myoglobinuria

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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